Mutagenetix > Incidental Mutations

Incidental Mutation 'R6024:Dpy19l4'

479076

Institutional Source

Beutler Lab

Gene Symbol

Dpy19l4

Ensembl Gene

ENSMUSG00000045205

Gene Name

dpy-19-like 4 (C. elegans)

Synonyms

Narg3, LOC381510

MMRRC Submission

044196-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R6024 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

11261315-11322137 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 11276876 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 523 (M523K)

Ref Sequence

ENSEMBL: ENSMUSP00000122823 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084892] [ENSMUST00000128024] [ENSMUST00000139385] [ENSMUST00000142005]

Predicted Effect

probably damaging
Transcript: ENSMUST00000084892
AA Change: M567K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000081954
Gene: ENSMUSG00000045205
AA Change: M567K

Domain	Start	End	E-Value	Type
Pfam:Dpy19	59	714	3e-213	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000128024
AA Change: M523K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000122823
Gene: ENSMUSG00000045205
AA Change: M523K

Domain	Start	End	E-Value	Type
Pfam:Dpy19	58	293	1e-89	PFAM
Pfam:Dpy19	291	524	4.8e-51	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000139385
AA Change: M341K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000115537
Gene: ENSMUSG00000045205
AA Change: M341K

Domain	Start	End	E-Value	Type
Pfam:Dpy19	1	258	3.2e-71	PFAM
Pfam:Dpy19	254	488	7e-70	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142005

SMART Domains

Protein: ENSMUSP00000119923
Gene: ENSMUSG00000045205

Domain	Start	End	E-Value	Type
Pfam:Dpy19	58	253	6.9e-77	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158560

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.0%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	G	13: 81,476,505	F3782L	probably benign	Het
Akr1d1	T	C	6: 37,558,482	I267T	probably benign	Het
Arhgef5	T	C	6: 43,275,134	S940P	probably benign	Het
Art2b	A	G	7: 101,580,380	I104T	probably benign	Het
Avpr1a	A	G	10: 122,449,148	Y115C	probably damaging	Het
Ccdc84	T	C	9: 44,417,952	T13A	possibly damaging	Het
Cdc42bpg	T	A	19: 6,317,496	L995Q	probably damaging	Het
Clip1	T	C	5: 123,615,089	K210E	possibly damaging	Het
Cog4	C	T	8: 110,881,480	T735I	probably damaging	Het
Creb3l4	G	A	3: 90,238,699	S206L	probably damaging	Het
Csf3r	C	A	4: 126,037,517		probably null	Het
Dnah11	G	T	12: 118,030,272	S2346R	probably benign	Het
Dnaic2	A	T	11: 114,752,908	I467F	possibly damaging	Het
Doxl2	A	T	6: 48,976,096	K318N	possibly damaging	Het
Ebf3	T	C	7: 137,200,535	D407G	probably damaging	Het
Fbn2	A	G	18: 58,076,836	I991T	probably benign	Het
Gcc1	T	C	6: 28,419,300	T345A	probably benign	Het
Gm1527	C	T	3: 28,920,603	H522Y	probably benign	Het
Gm340	C	A	19: 41,583,957	P384T	possibly damaging	Het
Gm4846	T	A	1: 166,490,127	Y240F	probably benign	Het
Hmgcl	T	C	4: 135,955,615	V126A	probably benign	Het
Ifit1bl2	G	T	19: 34,620,038	S59R	probably benign	Het
Itga6	A	G	2: 71,787,233	N32S	probably benign	Het
Macc1	T	C	12: 119,450,425	S779P	probably benign	Het
Mctp1	G	T	13: 76,385,161	L209F	probably damaging	Het
Mink1	A	G	11: 70,599,089	N97S	possibly damaging	Het
Mst1r	T	A	9: 107,908,151	V336E	probably benign	Het
Muc16	A	T	9: 18,646,671	S2775R	unknown	Het
Muc6	T	A	7: 141,641,574	T1316S	possibly damaging	Het
Myh11	T	A	16: 14,277,703	N65I	probably damaging	Het
Myo9a	A	G	9: 59,855,388	N801D	possibly damaging	Het
Nkain2	A	T	10: 31,951,285	M103K	probably damaging	Het
Nkx2-2	T	A	2: 147,184,041	Y259F	probably benign	Het
Nrxn1	T	C	17: 90,590,098	M877V	possibly damaging	Het
Nxf1	C	T	19: 8,767,744	L453F	probably damaging	Het
Pcnt	T	C	10: 76,420,037	S790G	possibly damaging	Het
Phf3	T	C	1: 30,863,226	D2G	probably damaging	Het
Phrf1	T	C	7: 141,258,985		probably benign	Het
Ptpn3	C	A	4: 57,248,653		probably null	Het
Pygl	T	C	12: 70,197,067	T625A	probably benign	Het
R3hdm2	T	A	10: 127,459,480	F239I	probably damaging	Het
Sesn1	A	T	10: 41,896,200	I242F	probably damaging	Het
Shank2	C	T	7: 144,180,031	T105I	probably benign	Het
Skint3	T	C	4: 112,290,346	F350S	possibly damaging	Het
Slco5a1	T	C	1: 12,944,070	Y320C	probably damaging	Het
Syt11	A	G	3: 88,762,109	S159P	probably benign	Het
Tanc2	G	A	11: 105,867,717	R768Q	probably damaging	Het
Tanc2	T	C	11: 105,923,672	S1981P	probably damaging	Het
Tmem200c	A	C	17: 68,841,727	D435A	possibly damaging	Het
Trappc8	A	G	18: 20,833,009	V1125A	probably damaging	Het
Ttn	A	G	2: 76,814,143	V4762A	possibly damaging	Het
Unc5d	A	G	8: 28,875,511	S149P	possibly damaging	Het
Usf3	A	T	16: 44,219,840	N1561I	probably damaging	Het
Wdr4	A	T	17: 31,501,298		probably benign	Het
Wdr49	T	G	3: 75,301,826	E612D	probably benign	Het

Other mutations in Dpy19l4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00479:Dpy19l4	APN	4	11290411	missense	probably benign	0.00
IGL01402:Dpy19l4	APN	4	11273006	critical splice donor site	probably null
IGL01404:Dpy19l4	APN	4	11273006	critical splice donor site	probably null
IGL01643:Dpy19l4	APN	4	11290184	splice site	probably benign
IGL01758:Dpy19l4	APN	4	11265846	missense	probably damaging	1.00
IGL01896:Dpy19l4	APN	4	11267752	missense	possibly damaging	0.81
IGL02222:Dpy19l4	APN	4	11281116	missense	possibly damaging	0.93
IGL02314:Dpy19l4	APN	4	11267720	missense	possibly damaging	0.50
IGL02422:Dpy19l4	APN	4	11265803	missense	possibly damaging	0.95
IGL02565:Dpy19l4	APN	4	11309440	missense	probably benign	0.14
IGL03121:Dpy19l4	APN	4	11303334	missense	probably damaging	1.00
IGL03357:Dpy19l4	APN	4	11267615	missense	probably damaging	1.00
IGL03368:Dpy19l4	APN	4	11290253	missense	possibly damaging	0.53
R0003:Dpy19l4	UTSW	4	11267619	missense	probably damaging	1.00
R0481:Dpy19l4	UTSW	4	11272993	splice site	probably benign
R0506:Dpy19l4	UTSW	4	11289715	missense	probably benign	0.07
R1114:Dpy19l4	UTSW	4	11287643	splice site	probably benign
R1332:Dpy19l4	UTSW	4	11276901	missense	probably damaging	1.00
R1336:Dpy19l4	UTSW	4	11276901	missense	probably damaging	1.00
R1355:Dpy19l4	UTSW	4	11303371	nonsense	probably null
R1421:Dpy19l4	UTSW	4	11304011	missense	probably benign	0.09
R1422:Dpy19l4	UTSW	4	11317168	missense	possibly damaging	0.88
R1465:Dpy19l4	UTSW	4	11296034	missense	probably damaging	1.00
R1465:Dpy19l4	UTSW	4	11296034	missense	probably damaging	1.00
R1766:Dpy19l4	UTSW	4	11303360	missense	probably damaging	1.00
R1803:Dpy19l4	UTSW	4	11281020	missense	possibly damaging	0.81
R2090:Dpy19l4	UTSW	4	11304344	missense	probably benign	0.34
R2324:Dpy19l4	UTSW	4	11276857	unclassified	probably benign
R2446:Dpy19l4	UTSW	4	11304143	splice site	probably null
R3769:Dpy19l4	UTSW	4	11276868	splice site	probably null
R4151:Dpy19l4	UTSW	4	11309485	missense	possibly damaging	0.89
R4472:Dpy19l4	UTSW	4	11304053	missense	possibly damaging	0.91
R4609:Dpy19l4	UTSW	4	11295999	nonsense	probably null
R4708:Dpy19l4	UTSW	4	11277970	missense	probably benign	0.00
R4722:Dpy19l4	UTSW	4	11290521	missense	possibly damaging	0.84
R4997:Dpy19l4	UTSW	4	11287493	missense	probably benign	0.01
R5085:Dpy19l4	UTSW	4	11265943	critical splice acceptor site	probably null
R5088:Dpy19l4	UTSW	4	11303357	missense	probably damaging	1.00
R5288:Dpy19l4	UTSW	4	11289721	missense	probably damaging	1.00
R5288:Dpy19l4	UTSW	4	11304014	missense	probably damaging	1.00
R5413:Dpy19l4	UTSW	4	11289700	missense	probably damaging	1.00
R5758:Dpy19l4	UTSW	4	11276886	missense	probably damaging	1.00
R6312:Dpy19l4	UTSW	4	11289671	nonsense	probably null
R6339:Dpy19l4	UTSW	4	11285111	missense	probably damaging	0.98
R7055:Dpy19l4	UTSW	4	11290291	critical splice acceptor site	probably null
R7359:Dpy19l4	UTSW	4	11273125	missense	probably benign	0.00
R7525:Dpy19l4	UTSW	4	11317160	nonsense	probably null
R7579:Dpy19l4	UTSW	4	11265909	missense	probably benign	0.39
R7913:Dpy19l4	UTSW	4	11265859	nonsense	probably null
R8047:Dpy19l4	UTSW	4	11317139	missense	probably benign	0.00
R8049:Dpy19l4	UTSW	4	11303982	missense	probably benign	0.44

Predicted Primers

PCR Primer
(F):5'- TGCTGCTGTGTGGAAGAAAG -3'
(R):5'- CATGTCAGCATGCTTCAAGG -3'

Sequencing Primer
(F):5'- ACTCTCAGACTTACCAAGGTTG -3'
(R):5'- CAGCATGCTTCAAGGTGGTC -3'

Posted On

2017-06-26